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rs80357671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;TTCC) 6 BRCA1 variant considered pathogenic for breast cancer
(TTCC;TTCC) 0 common in clinvar


Make rs80357671(-;-)
ReferenceGRCh38 38.1/141
Chromosome17
Position43091852
GeneBRCA1
is asnp
is mentioned by
dbSNPrs80357671
ebirs80357671
HLIrs80357671
Exacrs80357671
Varsomers80357671
Maprs80357671
PheGenIrs80357671
hapmaprs80357671
1000 genomesrs80357671
hgdprs80357671
ensemblrs80357671
gopubmedrs80357671
geneviewrs80357671
scholarrs80357671
googlers80357671
pharmgkbrs80357671
gwascentralrs80357671
openSNPrs80357671
23andMers80357671
23andMe allrs80357671
SNP Nexus

SNPshotrs80357671
SNPdbers80357671
MSV3drs80357671
GWAS Ctlgrs80357671
Max Magnitude6
rs80357671, also known as 3795del4, c.3676_3679delTTCC and p.Phe1226_Gln1227?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
ClinVar
Risk rs80357671(;)
Alt rs80357671(;)
Reference rs80357671(TTCC;TTCC)
Significance Pathogenic
Disease Familial cancer of breast Breast-ovarian cancer
Variation info
Gene BRCA1
CLNDBN Familial cancer of breast Breast-ovarian cancer, familial 1
Reversed 1
HGVS NC_000017.10:g.41243869_41243872delGGAA
CLNSRC Breast Cancer Information Core (BRCA1)
CLNACC RCV000048280.2, RCV000112153.1,